Cowper's syringocele: an analysis of 15 consecutive cases

Cystic dilatation of Cowper's gland ducts (Cowper's syringocele) is uncommon in children and is frequently asymptomatic, but it may cause urinary infection, haematuria, dysuria, and obstructive voiding symptoms. Fifteen consecutive children with syringocele aged 15 days to 15 years old are reported here. Only four patients with obstructive syringocele were successfully treated surgically; all the others were successfully treated conservatively. The true clinical significance of Cowper's syringocele lies in its potential to cause urethral obstruction. Careful clinical, radiological, endoscopic, and urodynamic evaluation is necessary in order to avoid unnecessary surgery.     

Cowper's syringocele: an analysis of 15 consecutive cases.

Cystic dilatation of Cowper''s gland ducts (Cowper''s syringocele) is uncommon in children and is frequently asymptomatic, but it may cause urinary infection, haematuria, dysuria, and obstructive voiding symptoms. Fifteen consecutive children with syringocele aged 15 days to 15 years old are reported here. Only four patients with obstructive syringocele were successfully treated surgically; all the others were successfully treated conservatively. The true clinical significance of Cowper''s syringocele lies in its potential to cause urethral obstruction. Careful clinical, radiological, endoscopic, and urodynamic evaluation is necessary in order to avoid unnecessary surgery.     

Long-term outcome after resection of benign cerebellar astrocytomas in children and young adults (0-19 years): report of 110 consecutive cases

The objective of this retrospective study was to present long-term follow-up data for 110 consecutive children and young adults treated for a benign cerebellar astrocytoma at our institution between 1960 and 2001. Mean age at presentation was 8.9 years. The total surgical mortality was 9%, but declined from 16% in 1960-1977 to 0% in 1988-2001. At the close of the study 97/110 patients were still alive. Nine deaths were surgery related, 2 patients died of shunt-related causes and 2 patients died due to tumor recurrence. Five-, 10- and 25-year survival were 90, 89 and 85%, respectively. Multiple Cox regression analysis showed that tumor infiltration of the brain stem and the time period of surgery were the only explanatory variables significantly associated with survival. Five-year survival improved from 79% in the time period of 1960-1977 to 100% in the time period of 1988-2001. Tumor recurrence after total tumor resection was observed in 5 of 76 (7%) evaluable patients. Growth of residual tumor after subtotal tumor resection was observed in 7 of 26 (27%) evaluable patients. Recent followup MR revealed regression of residual tumor in 14 of 16 patients. Only 5 of these patients had received radiotherapy. Thus, spontaneous regression of residual tumor is a more frequent event than growth of residual tumor. The functional outcome was favorable in 82% of the patients [Karnofsky performance index (KPI) > or = 90]. Eighteen percent of the patients had moderate to severe disabilities (KPI 50-80). CONCLUSIONS: Benign cerebellar astrocytoma is a surgical disease where the prognosis with respect to both survival and functional outcome is favorable. Spontaneous regression of residual tumor is frequently encountered, allowing for observation of residual tumors instead of performing a second resection in cases where a second resection carries a high risk of neurological sequelae.     

Purpura of the chin: Two consecutive cases

Two healthy children, a 10-year-old boy and a 13-year-old girl, both with no previous medical history, unrelated, presented with pinpoint purpura of the chin and the upper lip. It had appeared 2 days before and extended from the chin to the lower lip. Neither had fever or recent trauma, nor had they taken any medication. Their vital parameters and physical examination were normal. Their peripheral blood cell counts and coagulation parameters were normal. A week later, upon the follow-up consultation, the purpuric lesions had disappeared and both children reported they had played the glass game.     

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases

OBJECTIVE: To assess the yield of array-based comparative genomic hybridization. STUDY DESIGN: The results of array comparative genomic hybridization were collected on 1500 consecutive clinical cases sent to our laboratory for a variety of developmental problems. Confirmation fluorescence in situ hybridization of metaphase or interphase cells, depending on the aberration, was performed. RESULTS: Of the 1500 cases, 134 (8.9%) showed an abnormality: 36 (2.4%) showed polymorphisms or familial variants, 14 (0.9%) showed alterations of unknown clinical significance, and 84 (5.6%) showed clinically relevant genomic alterations. These included subtelomeric deletions and unbalanced rearrangements, microdeletions and reciprocal duplications, rare abnormalities, and low-level trisomy mosaicism. CONCLUSIONS: A targeted array detects a substantial proportion of abnormalities even in those patients who have already had extensive cytogenetic and/or fluorescence in situ hybridization testing. This study, although not a controlled ascertainment of subjects with specific selection criteria, accurately reflects the reality of clinical cytogenetic practice and provides an estimate of the cytogenetic abnormalities that can be identified with a targeted microarray in a diagnostic laboratory. Microarray analysis likely doubles the current yield of abnormal results detected by conventional cytogenetic analysis.     

21-羟化酶缺乏先天性肾上腺皮质增生症52例临床分析

目的 通过对21- 羟化酶缺乏先天性肾上腺皮质增生症(CAH)患儿的临床资料进行分析, 提高对CAH 的认识。方法 收集52 例被诊断为21- 羟化酶缺乏CAH 患儿的临床资料, 根据病情轻重、是否伴随失盐型表现分为单纯男性化型(n=15)、失盐型(n=28)和非典型型(n=9), 对不同类型CAH 患儿的临床资料进行比较分析。结果 52 例患儿中, 男女比1.6:1;起病年龄<1 个月41 例;有相关家族史4 例。单纯男性化型中最常见临床表现为阴蒂肥大(87%);失盐型患儿中最常见临床表现为色素沉着(89%)、喂养困难和(或)体重增长缓慢(61%);非典型型患儿中最常见临床表现为色素沉着(78%)。3 种类型患儿均有不同程度促肾上腺皮质激素、皮质醇、睾酮和雌二醇水平改变, 以失盐型为剧, 还常伴有高钾、低钠及代谢性酸中毒。经氢化可的松和(或)9-α 氟氢可的松等治疗后, 不同类型CAH 患儿皮质激素水平获得好转, 其中失盐型患儿皮质醇、睾酮、雌二醇、电解质水平较治疗前明显好转(P<0.05)。随访22 例, 9 例感染后病重再次住院, 8 例患儿有性早熟表现。结论 不同类型CAH 患儿临床症状有所差异, 尽早激素替代治疗对于改善患儿预后具有重要意义。     

肥胖儿童伴良性黑棘皮病与胰岛素抵抗19例分析

目的　探讨肥胖儿童伴良性黑棘皮病与胰岛素抵抗及 2型糖尿病的关系。方法2 0 0 3年 6月～ 2 0 0 3年 9月 ,在我院内分泌门诊及病房就诊的体重指数 (BMI)≥ 2 5的肥胖儿童共 76例 ,对其中伴黑棘皮病皮肤改变的 19例 ( 2 5 % )均行皮肤病理活检以明确诊断 ,同时对这些患儿行空腹血糖、空腹血胰岛素水平、空腹血糖 /胰岛素比值 (FGIR)及人体测量学参数 [腰围 /臀围比值(WHR) ,全身体脂含量 (FM)、体脂百分数 (BF % )、体重指数 (BMI) ]等的检测 ,并行葡萄糖耐量试验(OGTT试验 ) ,以探讨肥胖儿童伴良性黑棘皮病与胰岛素抵抗及 2型糖尿病的关系。结果　 19例良性黑棘皮病患儿人体测量学参数包括腰围 /臀围比值 ,全身体脂含量 (FM)、体脂百分数 (BF % )、体重指数 (BMI)及空腹血胰岛素水平明显高于正常对照组 (P <0 0 1) ,空腹血糖 /胰岛素比值 (FGIR) ( 4 2 7± 0 5 3)小于 7,存在明显的胰岛素抵抗 ,其中 1例诊断为 2型糖尿病 ,10例有糖耐量异常。结论　儿童良性黑棘皮病与肥胖、高胰岛素血症 ,胰岛素抵抗及 2型糖尿病密切相关 ,是临床胰岛素抵抗的皮肤标志     

儿童急性良性肌炎23例临床分析

目的 通过对儿童急性良性肌炎的临床分析,探讨其病因、症状及其临床意义。方法 测定肌痛患儿血清肌酸磷酸激酶(CPK)含量。结果 23例患儿(91.3%)CPK在肌痛急性期明显升高,为325～817 U/L(正常值为38～174 U/L)。CPK的下降与临床症状的消失相平行。结论 急性良性肌炎的患儿急性期均有肌痛表现,且绝大部分患儿CPK显著升高。     

Nodular regenerative hyperplasia of the liver: Description of two cases

Nodular regenerative hyperplasia (NRH) of the liver is a condition of unknown origin, rarely occurring in children, usually accidentally discovered, described in association with a variety of clinical conditions and drugs. Confusion with other types of hepatic masses may pose a problem and for this reason NRH is considered a “tumor-like lesion.” Histologically it consists of single or multiple regenerative foci. Hepatic failure and rupture of the liver have been rarely described as complications in adults, and not in children, and malignant transformation has not been demonstrated. Neither surgical removal nor other treatment is needed. These features are described as they were found in two patients we encountered. © 1996 Wiley-Liss, Inc.     

Malignant mesenchymoma of the mediastinum initially presenting as benign thymic hyperplasia

A 17-month-old female was first admitted to our hospital at 7 months of age because of an anterior mediastinal mass associated with mild respiratory symptoms. She underwent a biopsy of the mass that disclosed benign thymic hyperplasia. She came back 8 months later with a larger mass of the mediastinum obstructing the airway. She was intubated and underwent excision of the mass; the histological diagnosis was malignant mesenchymoma. From this experience, it is suggested that more aggressive follow-up, including repeated biopsy, must be considered for a persistent large thymic mass. Offprint requests to: T. Muraji     

Neonatal duodenal obstruction: a review of 30 consecutive cases

Delayed return of normal duodenal function necessitating a prolonged hospital stay may often follow operative treatment of neonatal duodenal obstruction (NDO). Previously suggested ways to improve the operative result include variations in the anastomic technique, duodenal tapering, and the omission of gastrostomy. We have analysed the experience at the Prince of Wales Children's Hospital of 30 consecutive cases of NDO treated over a 7-year period (1984–1990) in order to define factors in the treatment that might influence the establishment of oral feeding and duration of hospital stay. There were 19 males and 11 females, with duodenal atresia occurring in 10 and extrinsic or intrinsic causes of duodenal stenosis in the remaining 20. Two patients died without operation. Corrective procedures included 17 duodenoduodenostomies, 9 duodenoplasties, and 2 patients had lysis of Ladd's bands that produced duodenal obstruction from the time of birth. Only 1 patient underwent duodenal tapering. There were 20 gastrostomies performed according to the preferences of the primary-care surgeons. It was shown that the duration of establishing oral feeding and hospital stay were not influenced by the type of corrective procedure, although Ladd's bands duodenal obstruction was associated with the shortest hospital stay. The use of a gastrostomy was related to higher morbidity, a longer period to establish oral feeding, and a prolonged hospital stay. Prenatal diagnosis has also emerged as an important influencing factor. It is concluded that gastrostomy should be omitted in the treatment of NDO. The various types of corrective procedures were similar in final outcome in terms of morbidity and total hospitalisation time.Presented at the 7th Asian Congress of Paediatrics, Perth, 1991. Correspondence to: E. Shi     

Pierre Robin sequence: a series of 117 consecutive cases

A series of 117 cases of Pierre Robin Sequence are classified as isolated (48%), syndromic (35%), and with associated anomalies (17%); the latter group had a poor long-term prognosis. In isolated Pierre Robin Sequence, familial cases and a high incidence of twins were noted. Among syndromic Pierre Robin Sequence, 4 syndromes represent more than 50% of the diagnoses.